The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal mucosa.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000641:Ammonia / Q000097:blood; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007413:Intestinal Mucosa / Q000201:enzymology; D007422:Intestines / Q000201:enzymology*; D008025:Ligases / Q000378:metabolism*; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012007:Rectum / Q000201:enzymology*
D000641:Ammonia; D009954:Ornithine Carbamoyltransferase; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)